A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4290000



Internal ID20467545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40774069..40805884hg38UCSC Ensembl
chr22:41170073..41201888hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3831816
hg1931816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967959
Samples
Known GenesSLC25A17
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4290000
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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